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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1990 1
1993 2
1994 1
1995 6
1996 5
1997 4
1998 4
1999 3
2000 3
2001 6
2002 3
2003 5
2004 7
2005 9
2006 8
2007 15
2008 22
2009 8
2010 26
2011 22
2012 12
2013 20
2014 16
2015 21
2016 20
2017 10
2018 11
2019 8
2020 5
2021 11
2022 7
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Search Results

266 results
Results by year
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Page 1
A brief history of human disease genetics.
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. Claussnitzer M, et al. Among authors: north kn. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. Nature. 2020. PMID: 31915397 Free PMC article. Review.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: north kn. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: north kn. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.
Wyckelsma VL, Venckunas T, Houweling PJ, Schlittler M, Lauschke VM, Tiong CF, Wood HD, Ivarsson N, Paulauskas H, Eimantas N, Andersson DC, North KN, Brazaitis M, Westerblad H. Wyckelsma VL, et al. Among authors: north kn. Am J Hum Genet. 2021 Mar 4;108(3):446-457. doi: 10.1016/j.ajhg.2021.01.013. Epub 2021 Feb 17. Am J Hum Genet. 2021. PMID: 33600773 Free PMC article.
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: north kn. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1.
Rance G, Zanin J, Maier A, Chisari D, Haebich KM, North KN, Dabscheck G, Seal ML, Delatycki MB, Payne JM. Rance G, et al. Among authors: north kn. JAMA Netw Open. 2021 Dec 1;4(12):e2136842. doi: 10.1001/jamanetworkopen.2021.36842. JAMA Netw Open. 2021. PMID: 34870681 Free PMC article.
Inherited neuromuscular disorders: pathway to diagnosis.
Menezes MP, North KN. Menezes MP, et al. Among authors: north kn. J Paediatr Child Health. 2012 Jun;48(6):458-65. doi: 10.1111/j.1440-1754.2011.02210.x. Epub 2011 Nov 3. J Paediatr Child Health. 2012. PMID: 22050238 Review.
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
Neurofibromatosis 1 in childhood.
North KN. North KN. Semin Pediatr Neurol. 1998 Dec;5(4):231-42. doi: 10.1016/s1071-9091(98)80002-8. Semin Pediatr Neurol. 1998. PMID: 9874851 Review.
Skeletal muscle and motor deficits in Neurofibromatosis Type 1.
Summers MA, Quinlan KG, Payne JM, Little DG, North KN, Schindeler A. Summers MA, et al. Among authors: north kn. J Musculoskelet Neuronal Interact. 2015 Jun;15(2):161-70. J Musculoskelet Neuronal Interact. 2015. PMID: 26032208 Free PMC article. Review.
266 results